Joubert syndrome 29

Joubert syndrome 29 is an autosomal recessive disorder caused by mutations of the TMEM107 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
	Joubert syndrome 02
	Joubert syndrome 03
	Joubert syndrome 04
	Joubert syndrome 05
	Joubert syndrome 06
	Joubert syndrome 07
	Joubert syndrome 08
	Joubert syndrome 09
	Joubert syndrome 10
	Joubert syndrome 11
	Joubert syndrome 12
	Joubert syndrome 13
	Joubert syndrome 14
	Joubert syndrome 15
	Joubert syndrome 16
	Joubert syndrome 17
	Joubert syndrome 18
	Joubert syndrome 19
	Joubert syndrome 20
	Joubert syndrome 21
	Joubert syndrome 22
	Joubert syndrome 23
	Joubert syndrome 24
	Joubert syndrome 25
	Joubert syndrome 26
	Joubert syndrome 27
	Joubert syndrome 28
	Joubert syndrome 29
		TMEM107
	Joubert syndrome 30
	Joubert syndrome 31
	Joubert syndrome 32
	Joubert syndrome 33
	Joubert syndrome 34
	Joubert syndrome 35

References:

1.	Christopher KJ et al. (2012) Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.

2.	Shaheen R et al. (2015) Identification of a novel MKS locus defined by TMEM107 mutation.

3.	Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

4.	OMIM.ORG article Omim 617562

Update: June 23, 2025

Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits